Variant report

Variant	esv1011225
Chromosome Location	chr6:15188151-15198037
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15194327..15197318-chr6:15210091..15212891,2	K562	blood:
2	chr6:15197961..15203179-chr6:15208962..15212023,5	K562	blood:
3	chr6:15191202..15192958-chr6:15209892..15211430,2	K562	blood:
4	chr6:15197204..15198861-chr6:15320773..15322728,2	MCF-7	breast:
5	chr6:15177562..15179581-chr6:15194132..15195996,2	K562	blood:
6	chr6:15197961..15202582-chr6:15208962..15214320,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTNBP1-12	chr6:15197986-15198213	NONHSAT107863

No data

Extended variants
information (count: 99 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192777561	chr6:15188155-15188156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569021717	chr6:15188198-15188199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530968064	chr6:15188203-15188204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35975870	chr6:15188234-15188235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3927691	chr6:15188267-15188268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183661520	chr6:15188274-15188275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369632037	chr6:15188275-15188276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113261293	chr6:15188286-15188287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529697925	chr6:15188291-15188292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539544865	chr6:15188320-15188321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553011031	chr6:15188363-15188364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529253957	chr6:15193221-15193222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549254675	chr6:15193248-15193249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553104445	chr6:15193254-15193255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567276109	chr6:15193343-15193344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76486368	chr6:15193366-15193367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200337241	chr6:15193466-15193467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536218450	chr6:15193494-15193495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556000810	chr6:15193495-15193496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569544829	chr6:15193537-15193538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531946323	chr6:15193539-15193540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79209700	chr6:15193577-15193578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538486593	chr6:15193606-15193607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563243428	chr6:15193630-15193631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558328324	chr6:15193648-15193649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34156913	chr6:15193663-15193664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540928341	chr6:15193685-15193686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34390534	chr6:15193747-15193748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139202943	chr6:15193753-15193754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185796829	chr6:15193788-15193789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543797086	chr6:15193794-15193795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562867329	chr6:15193948-15193949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541142227	chr6:15193972-15193973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9383036	chr6:15193973-15193974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35107964	chr6:15193975-15193976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74959528	chr6:15193976-15193977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530221166	chr6:15194023-15194024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568705862	chr6:15194028-15194029	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs527879088	chr6:15194090-15194091	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs35265495	chr6:15194107-15194108	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548759721	chr6:15194139-15194140	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs547623327	chr6:15194165-15194166	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs556542477	chr6:15194186-15194187	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545315706	chr6:15194200-15194201	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs565491355	chr6:15194248-15194249	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs62397295	chr6:15194250-15194251	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146899032	chr6:15194310-15194311	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs73724763	chr6:15194384-15194385	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556160354	chr6:15194414-15194415	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567926318	chr6:15194484-15194485	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15184600-15188400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:15193200-15194000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr6:15193600-15194000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr6:15193600-15195400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:15194000-15194800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr6:15194000-15195400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr6:15194200-15194600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:15194200-15195200	Enhancers	Primary B cells from cord blood	blood
9	chr6:15194800-15195000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:15195000-15195200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr6:15195400-15195600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:15197400-15197600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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